GI

Question 1

What does the Paneth cells secrete?

Answer 1

Defensins

Question 2

Pathophysiology of duodenal atresia

Answer 2

Failure of recanalization 8-10 weeks
Usually 2nd portion of duodenum

Question 3

Baby with features of Cornelia de Lange with abdominal distention and emesis. Dx?

Answer 3

Volvulus with malro

Question 4

Xray with football sign in preterm. Where is the MC location of perforation?

Answer 4

Ileum

Most likely associated with NEC

Question 5

Which is the most common atresia?

Answer 5

Jejunal/ileal -50% of atresias, most common distal iluem
Polyhydramnios occurs in 1/3 jejunal atresia
Intrauterine ischemia is the cause

If gastroschisis MC to ileal atresia

Type III apple peel atresia, short intestinal length

Question 6

Abdominal distension in an IDM, filling defects. Dx, pathogenesis

Answer 6

Meconium plug
functional immaturity/hypomotility of colon- immaturity of myenteric plexus nerve cells

Question 7

Microcolon with enema that has filling defects. What do you test for?

Answer 7

CF

Meconium ileus

Question 8

Abdominal distension with Increased acetylcholine staining on tissue biopsy. Diagnosis?

Answer 8

Hirschsprung’s disease

Short segment is most common 75% (sigmoid colon)

Associations: T21, heterochromia? Waardenburg syndrome, 13q deletion, neurofibromatosis, neuroblastoma
Complicated by acute bacterial enterocolitis- mortality 25-30%

Question 9

The placenta removes biliverdin T/F

Answer 9

False. Removes bilirubin

Question 10

Which bilirubin crosses BBB?

Answer 10

Free unconjugated bilirubin

Question 11

Which syndrome is associated with
decreased activity of glucuronyl transferase
and lead to elevated indirect bilirubin?

Answer 11

Gilbert (decreased activity) and CN (absent)

Question 12

Multinucleated giant cells on liver biopsy and direct hyperbilirubinemia. Dx?

Answer 12

Neonatal idiopathic hepatitis

Question 13

What is GALD?

Tx?

Answer 13

Gestational alloimmune liver disease
Assoc’d with iron depisition and multi organ failure
Maternal Alloimmune (IgG) attacks fetal hepatocytes
Immune mediated - mat ab crossing placenta
Tx - In uteto IVIG weekly
Recurrence risk approaches 90% for future pregnancies

Question 14

Associated syndromes with omphalocele

Answer 14

Pentology of Cantrell
Beckwidth Weideman
OEIS (omphalocele, extrophy of bladder, imperforate anus, spinal disorder

MC (genetic abnormality) seen with aneuplody (T13, 18, 21) - 35-60% of all omphalocele

Question 15

What happens at the terminal ileum

Answer 15

Active transport of Vit B12 and bile salts

Question 16

What stimulates Paneth cells

Answer 16

Bacteria and bacterial components (lipopolysaccharude and lipoteichoic acid)

Question 17

MC developmental malformation with complex CDH

Answer 17

Cardiac (60%)
Renal (23%)
GI (17%)

Question 18

What is WAGR syndrome

Answer 18

Wilms tumor
Aniridia
GU abnormalities
Retardation

Question 19

What is VACTREL

Answer 19

Vertebral anomalies 
Anorectal malform
Cardiac 
Tracheo esophageal defects 
Renal anomalies

Question 20

T or F
The fetal intestine DOES respond to bacterial components (ie - lipopolysaccharide) more robustly than does the mature intestine

Answer 20

TRUE

Question 21

What organs are spared of iron deposition in GALD

Answer 21

Spleen
Lymph nodes
Bone marrow

Question 22

What organs are affected by iron deposition in GALD

Answer 22

Pancreas
Thyroid
Heart ♥️
Adrenal glands
Salivary glands (biopsy is safer and diagnostic)

Question 23

Hormone most impt in regulating intestinal transit

Answer 23

Glucagon-like 2 peptide

Also impt in intestinal adaptation

Question 24

Which is the most associated anomaly that affects survival

with esophageal atresia

Answer 24

♥️

Cardiac

Question 25

How is Allagîlle syndrome inherited?

Answer 25

AD Mutation in JAGGED 1 or NOTCH 1 ``` Presents with: Neonatal cholestasis ♥️ - MC pulmonary stenosis Ocular posterior embryotoxin Renal anomalies Vascular anomalies (intracranial- 12%) Short ```

Question 26

Name the syndrome: | CDH, abnormal fascies

Answer 26

Fryns Syndrome AR CDH with abnormalities of the fingers and toes; distinctive facial features Usually dont survive neonatal period

Question 27

``` Coagulopathy Hypoglycemia Increased NH4, Increased ferritin Decreased albumin ``` What do these presenting signs indicate?

Answer 27

GALD Also see - inc alpha feto protein, thrombocytopenia (due to increased iron) and inc TB/DB

Question 28

What is the primary substrate used by enterocytes for intestinal adaptation?

Answer 28

Glutamine

Question 29

Describe abnormalities with Schwachman Diamond syndrome (4) Genetics Most common hematologic abnormality

Answer 29

AR, 7q11 mutation, important in 60S ribosomal unit Bone marrow failure (neutropenia, pancytopenia) Pancreatic dysfunction Récurrent infection Skeletal anomalies (metaphyseal dysostosis and thoracic dystrophy) Most common hematologic abnormality- Neutropenia Increased risk myelodysplastic syndromes/leukemia (AML, aplastic anemia)

Question 30

Where do most post-NEC strictures occur?

Answer 30

Large intestine- most commonly L colon

Question 31

Omphalocele: associated with ____ maternal age 30% have an ____ karyotype

Answer 31

Advanced Abnormal karyotype 50-70% have other congenital abnormalities Male:Female 3:1

Question 32

Gastroschisis associated with:

Answer 32

Young maternal age Maternal smoking, EtOH, substance use, salicylates 10% concurrent atresia/stenosis IUGR more common

Question 33

Most common complications of gastroschisis (3)

Answer 33

15-30% have prolonged ileus, catheter related infections, sepsis

Question 34

Most common cause of flank mass in neonate

Answer 34

Hydronephrosis

Question 35

Biliary Atresia Population, pathogenesis diagnosis

Answer 35

Asian progressive inflammatory damage of both intra and extrahepatic bile ducts Hypothesis- viral triggered immune reaction Hepatobiliary scintigraphy- high sensitivity (high false pos)--> further confirmation w/ liver bx or cholangiogram

Question 36

Alpha 1 antitrypsin pathophys

Answer 36

Failure to release protein from liver--> liver injury

Question 37

Alagille Syndrome gene mutation

Answer 37

JAGGED1 gene

Question 38

Innate Immunity of the gut

Answer 38

Secretory IgA- produced by plasma cells intestinal mucins (produced by goblet cells)- thick physical barrier Antimicrobial peptides (defensins)- produced by Paneth cells pathogen recognition receptors immune cells- dendritic, Macrophages- phagocytosis, NK and natural killer T cells

Question 39

HLH

Answer 39

hyperactivated T cells and macrophages neutropenia, low NK cells compared to hemochromatosis

Question 40

Gastrin Secretin CCK Motilin

Answer 40

gastric secretion regulartor duodenal hormone released by small intestine--> stimulate pancreatic enzymes and contracts GB released by small intestine